Working to delete challenges: Family hopes to raise awareness of chromosome disorder

Oct. 15, 2012

Shelby Kotila shows off her bedroom at her family's home in Prattville. Shelby was diagnosed with 22Q Deletion when she was about 2. The 22Q deletion is caused when a small piece of chromosome 22 is missing. / Thomas Pearson/Contributed

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Several parents of 22Q kids, including Stacy Kotila, are circulating an online petition to make testing for 22Q11 deletion a mandatory newborn screening.

Because many babies with 22Q have cardiac issues, if those cardiac issues could be revealed soon after birth, they can be treated more effectively. The test, Kotila said, costs $6.

Dr. Lisa Kobrynski, a pediatric immunologist, is researching this issue. She explains that in all 50 states, a small sample of a baby’s blood is taken and screened for around 25 to 30 disorders, from sickle cell anemia to metabolic disorders. But in the last couple of years, researchers have developed a test for another type of immune deficiency, called Severe Combined Immune Deficiency (SCID). It’s commonly known as the “boy in the bubble” disease.

That test reveals whether or not a baby has very low numbers of T-cells; T stands for thymus, because that’s where the cells are produced. About nine states screen for this “boy in the bubble” disease, Kobrynski said; not only does the test pick up that disorder, but it also picks up 22Q11 deletion syndrome, because immune deficiency affects the thymus gland.

The states that have been screening are pushing for a second test that would allow them to discriminate from birth: Are the low T-cells there because of SCID, or because of 22Q?

With any newborn screening, it has to be cheap, Kobrynski said; the goal is to have a test that’s under $5 per test. And it’s not yet a recommended test on the newborn screening panel, and she doesn’t know when it will be. Likely, states will have to do some pilot projects first and show that it works, and that it’s cheap enough to be added to the newborn screening panel.

“There are many things we would do differently in (22Q) patients, so we want to know as early as we can whether or not they have this syndrome,” Kobrynski said. And, “it’s very helpful for the parents to know what’s going on, because these kids do have lots of problems, and it’s very frustrating for them not to have an answer.”

Shelby Kotila, 9, has a unique set of physical and developmental challenges: problems with her immune system, learning disabilities and speech difficulties, just to name a few.

But despite her unique challenges, she has a condition that is actually not terribly uncommon, and probably very underdiagnosed.

She has what’s called 22q11.2 Deletion Syndrome — a genetic condition that occurs when a part of chromosome 22 is deleted during fetal development. Some experts believe it may occur in as many as 1 in 3,000 live births.

Complications from the deletion can vary widely from patient to patient, but Shelby has many of the hallmarks. Many kids with “22Q,” as it’s called, also have congenital heart defects, psychological disturbances, gastrointestinal difficulties and hearing loss.

“What we moms say is, if you’ve seen one 22Q kid, you’ve seen one 22Q kid,” said Stacy Kotila, Shelby’s mom. How it affects a child, and the severity of his or her symptoms, can range widely.

Because of her varying symptoms, Shelby sees 13 doctors and specialists, from her pediatrician to her speech therapist. Shelby has had five surgeries so far, the first to repair her submucous cleft palate — a split in the roof of her mouth — which was part of the reason she didn’t start talking until about age 4. She’s been in speech therapy since age 2, and continues to have it three times a week.

She’s also had hernia repairs, sinus surgeries and tubes put in her ears multiple times — all from complications due to 22Q.

Stacy is homeschooling Shelby this year for the first time, to focus on her learning difficulties and to help catch her up. She also wants to figure out how to help the public schools help her, and hopefully other kids like her.

Stacy is working for more awareness of 22Q, and proudly wears a pin that says “Ask me about 22Q.” Give her a few minutes, and she’ll tell you all she can.

The hope is that “the more this comes out, the more public schools are going to adapt, and society in general is going to adapt to these kids,” Stacy said. “They’re OK, they’re just different. Not everybody fits in that cookie cutter.”

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A team effort for care

Shelby was diagnosed about age 2. The pediatrician told Stacy that one child couldn’t have as many medical issues as Shelby did without some underlying cause. She was sent for genetic testing at the University of Alabama at Birmingham, but the tests didn’t reveal anything.

Then, Shelby was sent to the cleft palate team at Children’s of Alabama. On the team is a geneticist, who noticed Shelby’s tapered fingers and small, pinched ears, two common physical features of people who have 22Q. He ordered the blood test that confirmed her 22Q deletion.

From there, the family started finding specialists, in Birmingham and Montgomery, to treat her varying, and often evolving, symptoms.

22Q is definitely a multisystem disorder that requires a team of medical professionals, said Dr. Lisa Kobrynski, a pediatric immunologist and medical director of the Southeastern Regional Center for 22Q11 in Atlanta.

“I tell parents, this is from the roots of your hair to the tips of your toes type of disorder,” Kobrynski said. “Some people will have problems with only one or two things, and others will have problems with a dozen things.”

22Q is usually — probably 85 percent of the time, and in Shelby’s case — a spontaneous deletion, Kobrynski said. The other 10 to 15 percent, there is a hereditary component; a parent has the same problem, but it was a very mild case, and the parent didn’t even know it.

For a long time, the disorder was known as “DiGeorge syndrome,” named for the man who identified a particular set of symptoms in children in Philadelphia — a heart defect, low calcium levels, and a severe immune deficiency, Kobrynski said. But there were other physicians elsewhere who were describing kids with cleft palates, speech difficulties and other cardiac problems — similar symptoms, but in different parts of the country. Different names were developed.

“We had all these syndromes, and we didn’t know they were related,” Kobrynski said.

Then in the early 1990s, a test was developed to detect the deletion in chromosome 22. Until that time, geneticists couldn’t see the deletion, because the existing test was not sensitive enough.

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Researchers went back and tested previous patients, and found that 90 percent of them had the same deletion. “It’s been around for a while; it’s just the ability to make the genetic diagnosis that’s new,” Kobrynski said.

Many challenges

Beyond the symptoms already described, Shelby has other issues that require varying amounts of attention, which will no doubt continue as she grows.

She has femoral anteversion — an inward twisting of the thigh bone — which gives her a pigeon-toed look. But she also has a short Achilles tendon, which causes her to walk on her toes. “It’s a lot of work for her to walk,” Stacy said. Castings and braces over the years haven’t helped, but surgery isn’t in the cards right now.

She took a growth hormone for some time because she had basically quit growing, Stacy said. She’s now in the 30th percentile for kids her age.

She tires easily, which makes public school difficult. Stacy said Shelby can sleep from 8 p.m. to 10 or 11 a.m. Sometimes she can sleep until noon and still take a two-hour nap.

“Nobody can figure out why she’s so tired, but that’s a common complaint among a lot of 22Q families,” Stacy said.

And she has learning disabilities — she learns slowly, but is eager to learn, something her teachers have always said about her. But she has anxiety issues, another common issue among 22Q kids. And she has been classified as having obsessive compulsive disorder (OCD).

Even with her challenges, Shelby is at heart just a normal kid — she loves her guinea pigs, Squeakers and Copper, and eagerly shows them off to a visitor. She has a social and creative outlet with the Girl Scouts, which her mom said has been a blessing for her. (Her favorite part, she says, is selling cookies.) And she has a real artistic talent — she loves to go to a painting studio, and to craft and create.

Still, it’s hard for a mom not to think about her child’s future.

'Glimpse of hope'

Stacy has become a very knowledgeable parent over the last seven years since Shelby’s diagnosis. Though she has spent years learning and researching 22Q, perhaps her greatest education came this summer, when the family went to Orlando, Fla., for a 22Q conference.

There, Stacy was able to talk with 22Q patients who are now in their 20s, who’ve learned to cope with their many physical and educational challenges. “That’s where I had my first glimpse of hope,” Stacy said.

Physically, most 22Q kids live full lives, Kobrynski said; their lifespan depends on what organ systems are affected. Kids with complex heart defects that are hard to repair may have problems that can limit their lifespan, but for the most part, their symptoms aren’t life-limiting.

But for Stacy, seeing older 22Q patients who’ve grown and thrived was a blessing.

“Not only did they give you hope — what does the future hold? — but most of these kids go on to college,” Stacy said. They may need help with learning to overcome their disabilities, but help is out there.

For now, Stacy wants to reach out to other families that have 22Q kids, and to help make the world aware of 22Q. That was the big takeaway from the Orlando conference.